Explore This Lab


The Neurogenetics Program provides multi-disciplinary clinical care, conducts research for certain neurogenetic disorders and offers diagnostic testing for an array of neurodegenerative diseases. Founded in the early 1990s, the Neurogenetics Clinic is a local, regional, national and international resource for the diagnostic evaluation of neurogenetic disorders for patients and their families.

Research Projects

Our areas of focus include:

  • Spinal Muscular Atrophy: We conduct clinical trials as well as natural history data collection and proactive care. In addition to trials, we also participate in ongoing research and publications to advance knowledge of this disease and optimal care.
  • Alternating Hemiplegia of Childhood: We collect natural history data, research samples and provide proactive care for patients and families with AHC. We participate in ongoing research and publications in this field and are active with the AHC foundation.
  • ATP1A3 Mutation: We collect natural history data, research samples and provide proactive clinical care for patients with ATP1A3 mutations.
  • Lysosomal Storage Diseases: We conduct clinical trials and participate in a national patient registry.
  • Mitochondrial Diseases: We collaborate with internal researchers and keep a patient registry and tissue bank.
  • Norrie Disease: We see patients with Norrie disease and keep a patient registry and tissue bank.
  • NCL Disorders: We keep a patient registry and tissue bank.

Our program serves as the institutional primary investigator on multicenter national clinical research studies in Spinal Muscular Atrophy, Fabry, Gaucher and Pompe diseases. In addition, we can refer patients to existing and future clinical trials and research studies both within and outside of Mass General.

Prospective evaluation of infants with spinal muscular atrophy (SPOT SMA)

SPOT SMA is a prospective NIH-supported clinical study targeting pre-symptomatic or recently diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3. The main objective of the study is to implement and assess the impact of multidisciplinary care using a standardized protocol on health outcomes in SMA infants prospectively identified in the prenatal or newborn period in the setting of a family history of SMA. There is no investigational drug; the intervention in this study is in the form of coordinated, multidisciplinary care including dietary intervention, respiratory monitoring, physical therapy, and genetic counseling.

The SPOT SMA study is for:

  • Infants, children, and adults who have been genetically diagnosed with SMA.
  • control subjects—individuals of any age not diagnosed with SMA

Study participation lasts for up to two years. During this time, participants will receive coordinated, multidisciplinary care including visits with the study doctor at no cost.

Travel coordination and reimbursement may be available.

To learn more, please visit ClinicalTrials.gov or contact study coordinators at Massachusetts General Hospital at 617-999-9219.

Biorepository for Molecular Studies in Disorders of Energy Metabolism

The Biorepository for Disorders of energy metabolism is a long-term research study designed to collect and store biological samples (e.g. blood, urine, skin tissues, etc.) for future research studies. Collection of these samples will serve as resource for clinicians and scientist who conduct genetic research to learn how genes and DNA contribute to various genetic conditions, particularly in the areas of disorder of energy metabolism. We hope that these studies will further help researchers and clinicians understanding the disease mechanism and identifying biomarkers to develop ways to prevent, detect, and treat patients with these conditions.

This is a clinical study targeting individuals of any age diagnosed with disorders of energy metabolism. The main objective of the study is to create a robust resource to support researchers who will contribute to the future of personalized medicine within the field of neurogenetics.

To learn more, please contact study coordinators at Massachusetts General Hospital at 617-724-2523.

Research Positions

Visiting Scholar

We welcome individuals at different levels of clinical and academic training (Undergraduate, Graduate students, Medical students, Residents, and Postdoctoral Fellows) with exposure in the fields of neurology and genetics. Each application is reviewed individually. Please send CV to Dr. Kathryn Swoboda at kswoboda@mgh.harvard.edu.